A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981332



Internal ID12626492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36839930..37045930hg38UCSC Ensembl
Innerchr21:38212230..38418230hg19UCSC Ensembl
Innerchr21:37134100..37340100hg18UCSC Ensembl
Innerchr21:37134100..37340100hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38206001
hg19206001
hg18206001
hg17206001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751929
Supporting Variants
SamplesBEC_386
Known GenesHLCS, RIPPLY3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981332
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer